Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.
case_series · Level IV
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Abstract
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare idiopathic epilepsy syndrome caused by mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene. The authors report that molecular genetic studies in seven affected family members identified a novel F318C substitution that alters a highly conserved residue in a predicted repeat domain of unknown function. This report suggests that this domain may participate in the development of the ADPEAF phenotype.
Medical subject headings
- Auditory Perceptual Disorders
- Epilepsy, Temporal Lobe
- Mutation, Missense
- Point Mutation
- Proteins